Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review

  • J Matern Fetal Neonatal Med. 2007 Jun;20(6):487-90. doi: 10.1080/14767050701398447.
C Verrotti  1 ,  G Benassi ,  G Piantelli ,  C Magnani ,  G Giordano ,  D Gramellini
Affiliations
  • 1. Department of Gynecology, Obstetrics and Neonatology, Parma University, Italy. [email protected]
PMID: 17674260 DOI: 10.1080/14767050701398447
Abstract

The acrofacial dysostosis (AFD) syndromes are an heterogeneous group of disorders with undefined classification and inheritance. We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound.